| Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. | Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.
Li M, Fu H, Li J, Meng D, Zhang Q, Fei D., Free PMC Article | 01/14/2023 |
| Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study. | Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.
Okamura Y, Yamamoto T, Tsukui R, Kato Y, Shibata N., Free PMC Article | 12/18/2021 |
| The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons. | Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.
Haro C, Uribe ML, Quereda C, Cruces J, Martín-Nieto J., Free PMC Article | 11/17/2018 |
| ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. | ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT., Free PMC Article | 09/22/2018 |
| the mutated fukutin protein was smaller than the normal protein, reflecting the truncation of fukutin due to a premature stop codon. Immunostaining analysis showed a decrease in the signal for the glycosylated form of alpha-dystroglycan. These findings indicated that this mutation is the second most prevalent loss-of-function mutation in Japanese Fukuyama congenital muscular dystrophy patients. | Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T. | 06/23/2018 |
| Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. | Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.
Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, Kanagawa M, Endo T, Toda T. | 04/14/2018 |
| Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. | Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T. | 01/14/2017 |
| Fukutin role in in tumor progression in gastric cancer | Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer.
Oo HZ, Sentani K, Mukai S, Hattori T, Shinmei S, Goto K, Sakamoto N, Naito Y, Anami K, Trang PTB, Yanagihara K, Oue N, Yasui W. | 12/31/2016 |
| Mutation in the fukutin gene is associated with Fukuyama congenital muscular dystrophy and microcephaly. | Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS., Free PMC Article | 05/10/2014 |
| four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy | Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ. | 06/4/2011 |
| FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea | Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim YJ, Kim IO, Lee JS, Chae JH. | 11/27/2010 |
| an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults | Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK., Free PMC Article | 01/21/2010 |
| We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced alpha-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement. | Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, Morandi L, Mora M, Moroni I. | 01/21/2010 |
| Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP. | Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. | 01/21/2010 |
| Our results provide further evidence for ethnic and allelic heterogeneity and the presence of milder phenotypes in FKTN-dystroglycanopathy despite a substantial degree of alpha-dystroglycan hypoglycosylation in skeletal muscle. | Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE., Free PMC Article | 01/21/2010 |
| The homozygous nonsense mutations within the coding region identified in Turkish patients are predicted to cause a total loss of fukutin activity and are likely to produce a more severe phenotype which closely resembles WWS. | Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
Yoshioka M. | 01/21/2010 |
| The compound heterozygous FKTN mutation was a rare cause of dilated cardiomyopathy. Hyper-CKemia might be indicative of FKTN mutation in dilated cardiomyopathy. | Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A, Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A. | 01/21/2010 |
| FCMD mutations are a more common cause of Walker-Warburg syndrome outside of the Middle East. | Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesCongenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A, Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A. | 11/26/2008 |
| Observational study of genotype prevalence. (HuGE Navigator) | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. | 03/13/2008 |
| Observational study of genotype prevalence and genetic testing. (HuGE Navigator) | A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.
Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. | 03/13/2008 |
| Walker-Warburg syndrome carries a homozygous-single nucleotide insertion that produces a frameshift, or 2 mutations, a point mutation that produces an amino acid substitution, & deletion in 3'UTR that affects the polyadenylation signal of fukutin gene. | Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J. | 01/21/2010 |
| In Fukuyama congenital muscular dystrophy (FCMD) cases, expression of fukutin looked decreased. | Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy.
Yamamoto T, Kato Y, Karita M, Takeiri H, Muramatsu F, Kobayashi M, Saito K, Osawa M. | 01/21/2010 |
| Fukutin seems to bind to both the hypoglycosylated and fully glycosylated form of alpha-dystroglycan, and seems bind to the core area rather than the sugar chain of alpha-dystroglycan | Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan.
Yamamoto T, Kawaguchi M, Sakayori N, Muramatsu F, Morikawa S, Kato Y, Shibata N, Kobayashi M. | 01/21/2010 |
| Fukutin is associated with Walker-Warburg syndrome. | A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG., Free PMC Article | 01/21/2010 |